Entity Details

Primary name RAG1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP15918
EntryNameRAG1_HUMAN
FullNameV(D)J recombination-activating protein 1
TaxID9606
Evidenceevidence at protein level
Length1043
SequenceStatuscomplete
DateCreated1990-04-01
DateModified2021-06-02

Ontological Relatives

GenesRAG1

GO terms

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GOName
GO:0002250 adaptive immune response
GO:0002331 pre-B cell allelic exclusion
GO:0003677 DNA binding
GO:0004519 endonuclease activity
GO:0004842 ubiquitin-protein transferase activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006310 DNA recombination
GO:0006955 immune response
GO:0008270 zinc ion binding
GO:0008542 visual learning
GO:0010390 histone monoubiquitination
GO:0030183 B cell differentiation
GO:0033077 T cell differentiation in thymus
GO:0033151 V(D)J recombination
GO:0042393 histone binding
GO:0042803 protein homodimerization activity
GO:0043029 T cell homeostasis
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043565 sequence-specific DNA binding
GO:0045582 positive regulation of T cell differentiation
GO:0046872 metal ion binding
GO:0048538 thymus development
GO:0051865 protein autoubiquitination
GO:0061630 ubiquitin protein ligase activity
GO:0070244 negative regulation of thymocyte apoptotic process
GO:0097519 DNA recombinase complex
GO:1905347 endodeoxyribonuclease complex
GO:2000822 regulation of behavioral fear response

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001841 Zinc finger, RING-typeDomainDomain
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily
IPR017907 Zinc finger, RING-type, conserved siteSiteConserved site
IPR019485 V(D)J recombination-activating protein 1, Zinc fingerDomainDomain
IPR023336 RAG nonamer-binding domainDomainDomain
IPR024627 V(D)J recombination-activating protein 1FamilyFamily
IPR035714 RAG1 importin-bindingDomainDomain
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
601457 OMIMSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID)A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. The disease is caused by variants affecting the gene represented in this entry.
603554 OMIMOmenn syndrome (OS)Severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels. The disease is caused by variants affecting the gene represented in this entry.
233650 OMIMCombined cellular and humoral immune defects with granulomas (CHIDG)Immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. Other characteristics include hypogammaglobulinemia, a diminished number of T and B-cells, and sparse thymic tissue on ultrasonography. The disease is caused by variants affecting the gene represented in this entry.
609889 OMIMAlpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity (T-CMVA)An immunological disorder characterized by oligoclonal expansion of TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe, disseminated cytomegalovirus infection and autoimmune cytopenia. The disease is caused by variants affecting the gene represented in this entry.

Interactions

33 interactions

InteractorPartnerSourcesPublicationsLink
RAG1_HUMANIMA5_HUMANBioGRID, HPRD, MINT8052633 8777717 details
RAG1_HUMANCRK_HUMANIntAct17474147 details
RAG1_HUMANNCK1_HUMANIntAct17474147 details
RAG1_HUMANPLCG1_HUMANIntAct17474147 details
RAG1_HUMANRAG2_HUMANBioGRID, HPRD12861017 14670978 25745109 26124138 8777717 9036966 9630231 details
RAG1_HUMANHMGB1_HUMANBioGRID, HPRD10490593 details
RAG1_HUMANHMGB2_HUMANBioGRID, HPRD10490593 details
RAG1_HUMANIMA1_HUMANBioGRID, HPRD8016130 8777717 details
RAG1_HUMANH31T_HUMANBioGRID20122409 details
RAG1_HUMANH4_HUMANBioGRID20122409 details
RAG1_HUMANH2A2C_HUMANBioGRID20122409 details
RAG1_HUMANH2B2E_HUMANBioGRID20122409 details
RAG1_HUMANH31_HUMANBioGRID21256161 details
RAG1_HUMANDCAF1_HUMANBioGRID22157821 details
RAG1_HUMANUB2D2_HUMANBioGRID12629039 20122409 26124138 details
RAG1_HUMANUBE2H_HUMANBioGRID21256161 details
RAG1_HUMANA4_HUMANBioGRID21244100 details
RAG1_HUMANUBE2C_HUMANBioGRID12629039 details
RAG1_HUMANUBC_HUMANBioGRID12629039 details
RAG1_HUMANRAG1_HUMANBioGRID26124138 details
RAG1_HUMANUB2D1_HUMANBioGRID26124138 details
RAG1_HUMANHS90B_HUMANIntAct22939624 details
RAG1_HUMANFKBP5_HUMANIntAct25036637 details
RAG1_HUMANNUDC_HUMANIntAct25036637 details
RAG1_HUMANNUDC3_HUMANIntAct25036637 details
RAG1_HUMANCYBP_HUMANIntAct25036637 details
RAG1_HUMANTEBP_HUMANIntAct25036637 details
RAG1_HUMANDDB1_HUMANBioGRID22157821 details
RAG1_HUMANRBX1_HUMANBioGRID22157821 details
RAG1_HUMANCUL4A_HUMANBioGRID22157821 details
RAG1_HUMANHS90A_HUMANBioGRID22939624 details
RAG1_HUMANMDC1_HUMANBioGRID22942284 details
RAG1_HUMANRUNX1_HUMANBioGRID25135298 details